ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826149648
Gene: PHF8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171826.1:p.Ser845Leu
CA413240934
NM_001184897.2:c.2534C>T